ClinVar Miner

List of variants in gene C19orf12 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) rs79915936 0.00444
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs) rs797045423
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808

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